Lens epithelial changes and mutated gene expression in patients with myotonic dystrophy

摘要

AIMS—Examination of the expression of the mutated allele of myotonic dystrophy protein kinase gene and lens epithelial cell changes in patients with myotonic dystrophy.
METHODS—Six eyes from three patients with myotonic dystrophy underwent cataract surgery. The lens epithelium was photographed to examine the morphological changes. mRNAs were extracted to determine myotonic dystrophy protein kinase gene expression in the lens epithelium and peripheral blood. Age matched lens epithelial cells from senile cataracts were used as controls.
RESULTS—All eyes showed iridescent or posterior subcapsular lens opacity. The expression of the myotonic dystrophy protein kinase gene with trinucleotide repeat expansion was evaluated by reverse transcriptase polymerase chain reaction, Southern blotting, and sequence analysis. Lens epithelial cell densities were extremely reduced in the patients compared with the control group.
CONCLUSION—To the authors' knowledge, this is the first report to describe the relation between lens epithelial cell changes and mutated gene expression in patients with myotonic dystrophy. The gene may be mitotically unstable in the lens epithelial cells; it may influence cell density and lens epithelial function, and it may lead to the development of typical subcapsular lens opacity.

Keywords: lens epithelial cell; myotonic dystrophy; RT-PCR